Canonical Allele Identifier: CA361805893

Gene: GM2A

Linked Data

• MyVariant Identifiers: chr5:g.150639395A>T (hg19) ; chr5:g.151259834A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259834A>T , CM000667.2:g.151259834A>T	GRCh38
NC_000005.9:g.150639395A>T , CM000667.1:g.150639395A>T	GRCh37
NC_000005.8:g.150619588A>T	NCBI36
NG_009059.1:g.11783A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000357164.4:c.161A>T MANE Select	ENSP00000349687.3:p.Glu54Val
ENST00000357164.3:c.161A>T	ENSP00000349687.3:p.Glu54Val
ENST00000523004.1:c.36A>T
ENST00000523466.5:c.206A>T	ENSP00000429100.1:p.Glu69Val
NM_000405.4:c.161A>T	NP_000396.2:p.Glu54Val
NM_001167607.1:c.161A>T	NP_001161079.1:p.Glu54Val
NM_000405.5:c.161A>T MANE Select	NP_000396.2:p.Glu54Val
NM_001167607.2:c.161A>T	NP_001161079.1:p.Glu54Val
NM_001167607.3:c.161A>T	NP_001161079.1:p.Glu54Val